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Articles 1 - 8 of 8
Full-Text Articles in Medical Genetics
Editorial: Epigenetics And Molecular Genetics Of Rare Tumors, Mauro Tognon, George A. Calin, Luis Del Valle
Editorial: Epigenetics And Molecular Genetics Of Rare Tumors, Mauro Tognon, George A. Calin, Luis Del Valle
School of Medicine Faculty Publications
No abstract provided.
In-Depth Analysis Of Next-Generation Sequencing (Ngs) And Bioinformatics Results In Pediatric Adgrv1 Compound Heterozygotes, Sloane Clay, Adele Evans, Chindo Hicks, David Otohinoyi
In-Depth Analysis Of Next-Generation Sequencing (Ngs) And Bioinformatics Results In Pediatric Adgrv1 Compound Heterozygotes, Sloane Clay, Adele Evans, Chindo Hicks, David Otohinoyi
Medical Student Research Poster Symposium
Genetic diagnosis of sensorineural hearing loss (SNHL) using NGS proves challenging when encountering multigenic, multiallelic variants of uncertain significance (VUS). These VUS make it difficult to provide anticipatory guidance regarding progressive disorders such as Type II Usher syndrome (SNHL at birth and retinitis pigmentosa in the second decade of life). With genetic testing companies are identifying, reporting, and reclassifying VUS at a rapid pace; there is a need for in depth-analysis and interpretation. For example, VUS in ADGRV1, a gene implicated in Type II Usher Syndrome, may be inherited in a compound heterozygous manner and misinterpreted as benign, when in …
The Fecal Position: Tracking Progressive Dna Repeat Expansion Via Stool Dna Extraction, Margaret Conrad, Hayley Ulloa, Ed Grabczyk
The Fecal Position: Tracking Progressive Dna Repeat Expansion Via Stool Dna Extraction, Margaret Conrad, Hayley Ulloa, Ed Grabczyk
Medical Student Research Poster Symposium
Friedreich Ataxia is a progressive DNA repeat expansion disease. Examining DNA repeat expansion in mouse models require sacrificing the mouse and taking samples of organs. The obvious non-lethal targets, such as ears, tails, and blood do not have levels of repeat expansion comparable to internal organs. However, recent publications suggest that stool may be a suitable non-lethal candidate for tracking repeat expansion over time. Stool DNA may allow researchers to monitor the effect of interventions aimed at slowing DNA repeat expansion over time without harming the mouse. A commercial kit was first used to extract DNA from feces without success. …
Development Of Genetic Strategies To Treat Vision Loss In Usher Syndrome Type 1c (Ush1c), Dongjoon (Jason) Kim, Inga Kristaponyte, Bhagwat Alapure, Katelyn Robillard, Wadih Zein, Robert Koenekoop, Maria Reinoso, Jennifer J. Lentz
Development Of Genetic Strategies To Treat Vision Loss In Usher Syndrome Type 1c (Ush1c), Dongjoon (Jason) Kim, Inga Kristaponyte, Bhagwat Alapure, Katelyn Robillard, Wadih Zein, Robert Koenekoop, Maria Reinoso, Jennifer J. Lentz
Medical Student Research Poster Symposium
Background: Usher Syndrome (Usher) is the most common genetic cause of deaf-blindness, characterized by the loss of hearing, vestibular function, and vision. Three clinical types (USH1- 3) and 10 genes are associated with the disease. USH1 is the most severe with congenital severeprofound sensorineural hearing loss and vestibular areflexia, and childhood onset of retinitis pigmentosa. Mutations in the USH1C gene account for 6-15% USH1, however USH1C c.216G>A (216A) accounts for nearly all USH1 cases in the Acadian populations in U.S. and Canada. The 216A splicing mutation results in a truncated harmonin protein, and photoreceptor and cochlear hair cell dysfunction. …
Mismatch In Mice And Men, Ryan Schroeder, Hayley Ulloa, Alan Williams, Ed Grabczyk
Mismatch In Mice And Men, Ryan Schroeder, Hayley Ulloa, Alan Williams, Ed Grabczyk
Medical Student Research Poster Symposium
Friedreich ataxia is a progressive degenerative neuromuscular disease that is caused by the expansion of a repetitive region of DNA, composed of three nucleotide repeats (GAA•TTC). Expansion of the DNA occurs throughout the lifespan of the patient and has been linked to the activity of specific DNA mismatch repair proteins. Disease onset occurs when the expansion increases in size beyond a certain threshold, silencing the gene and causing progressive ataxia, diabetes mellitus, and cardiomyopathy. These symptoms are linked to an increased repeat number observed within the heart, pancreas, and brain relative to other tissues within an individual. Friedreich ataxia is …
Interplay: The Essential Role Between Insm1 And N-Myc In Aggressive Neuroblastoma, Chiachen Chen, Michael S. Lan
Interplay: The Essential Role Between Insm1 And N-Myc In Aggressive Neuroblastoma, Chiachen Chen, Michael S. Lan
School of Medicine Faculty Publications
An aggressive form of neuroblastoma (NB), a malignant childhood cancer derived from granule neuron precursors and sympathoadrenal lineage, frequently comprises MYCN amplification/elevated N-Myc expression, which contributes to the development of neural crest-derived embryonal malignancy. N-Myc is an oncogenic driver in NB. Persistent N-Myc expression during the maturation of SA precursor cells can cause blockage of the apoptosis and induce abnormal proliferation, resulting in NB development. An insulinoma-associated-1 (INSM1) zinc-finger transcription factor has emerged as an NB biomarker that plays a critical role in facilitating tumor cell growth and transformation. INSM1 plays an essential role in sympathoadrenal cell differentiation. N-Myc activates …
Lower Sars-Cov-2 Seroprevalence Among Cancer Patients In Sub-Saharan Africa, For Yue Tso, Salum J. Lidenge, John R. Ngowi, Phoebe B. Peña, Ashley A. Clegg, Owen Ngalamika, Chacha J. Mwita, Julius Mwaiselage, Charles Wood
Lower Sars-Cov-2 Seroprevalence Among Cancer Patients In Sub-Saharan Africa, For Yue Tso, Salum J. Lidenge, John R. Ngowi, Phoebe B. Peña, Ashley A. Clegg, Owen Ngalamika, Chacha J. Mwita, Julius Mwaiselage, Charles Wood
School of Medicine Faculty Publications
Background: Despite the high COVID-19 morbidity and mortality rates across the world, the reported rates in sub-Saharan Africa (SSA), which has a higher burden of other infectious diseases and overwhelmed healthcare systems, remain relatively low. This study aims to better understand the potential factors that contribute to this phenomenon, especially among cancer patients who are considered as a high-risk group for developing severe COVID-19. Methods: Plasma samples collected during the COVID-19 pandemic from SARS-CoV-2 unvaccinated cancer and potential blood donor populations were analyzed for SARS-CoV-2 (spike and nucleocapsid proteins) antibodies by an immunofluorescence assay. The relationships between SARS-CoV-2 seroprevalences and …
Landscape Of Molecular Crosstalk Perturbation Between Lung Cancer And Covid-19, Aditi Kuchi, Jiande Wu, Jyotsna Fuloria, Chindo Hicks
Landscape Of Molecular Crosstalk Perturbation Between Lung Cancer And Covid-19, Aditi Kuchi, Jiande Wu, Jyotsna Fuloria, Chindo Hicks
School of Medicine Faculty Publications
Background: Lung cancer patients have the worst outcomes when affected by coronavirus disease 2019 (COVID-19). The molecular mechanisms underlying the association between lung cancer and COVID-19 remain unknown. The objective of this investigation was to determine whether there is crosstalk in molecular perturbation between COVID-19 and lung cancer, and to identify a molecular signature, molecular networks and signaling pathways shared by the two diseases. Methods: We analyzed publicly available gene expression data from 52 severely affected COVID-19 human lung samples, 594 lung tumor samples and 54 normal disease-free lung samples. We performed network and pathways analysis to identify molecular networks …